Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation.
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A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutationMutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15 S rRNAMutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutationsFunctional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing lossA peep into mitochondrial disorder: multifaceted from mitochondrial DNA mutations to nuclear gene modulationIsolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutationThe deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriersMitochondrial stress engages E2F1 apoptotic signaling to cause deafnessModifiers of hearing impairment in humans and mice.Elucidation of separate, but collaborative functions of the rRNA methyltransferase-related human mitochondrial transcription factors B1 and B2 in mitochondrial biogenesis reveals new insight into maternally inherited deafnessMaternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese familyMRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential.Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing lossMitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.Mitochondrial transfer RNAMet 4435A>G mutation is associated with maternally inherited hypertension in a Chinese pedigree.Failures in mitochondrial tRNAMet and tRNAGln metabolism caused by the novel 4401A>G mutation are involved in essential hypertension in a Han Chinese Family.Whole-exome sequencing to decipher the genetic heterogeneity of hearing loss in a Chinese family with deaf by deaf mating.Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss.Mitochondrial DNA: impacting central and peripheral nervous systems.Mitochondrial threshold effects.Nuclear modifier MTO2 modulates the aminoglycoside-sensitivity of mitochondrial 15S rRNA C1477G mutation in Saccharomyces cerevisiae.Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.Disorders of mitochondrial protein synthesis.Hearing in 44-45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study.Mitochondrial ribosomal proteins: candidate genes for mitochondrial disease.A meta-analysis and systematic review of the prevalence of mitochondrially encoded 12S RNA in the general population: Is there a role for screening neonates requiring aminoglycosides?The genetic bases for non-syndromic hearing loss among ChineseThe 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigreesMaternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees.Mitochondrial deafness alleles confer misreading of the genetic codeMitochondrial COX2 G7598A mutation may have a modifying role in the phenotypic manifestation of aminoglycoside antibiotic-induced deafness associated with 12S rRNA A1555G mutation in a Han Chinese pedigree.Expression and maintenance of mitochondrial DNA: new insights into human disease pathologyMitochondrial rRNA and tRNA and hearing function.Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafnessA Hypertension-Associated tRNAAla Mutation Alters tRNA Metabolism and Mitochondrial Function.Coronary heart disease is associated with a mutation in mitochondrial tRNA.The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family.Genetics of aminoglycoside-induced and prelingual non-syndromic mitochondrial hearing impairment: a review.Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation.
P2860
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P2860
Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation.
description
2001 nî lūn-bûn
@nan
2001 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մարտին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Nuclear background determines ...... tochondrial 12S rRNA mutation.
@ast
Nuclear background determines ...... tochondrial 12S rRNA mutation.
@en
type
label
Nuclear background determines ...... tochondrial 12S rRNA mutation.
@ast
Nuclear background determines ...... tochondrial 12S rRNA mutation.
@en
prefLabel
Nuclear background determines ...... tochondrial 12S rRNA mutation.
@ast
Nuclear background determines ...... tochondrial 12S rRNA mutation.
@en
P2093
P356
P1476
Nuclear background determines ...... tochondrial 12S rRNA mutation.
@en
P2093
Fischel-Ghodsian N
P304
P356
10.1093/HMG/10.6.573
P577
2001-03-01T00:00:00Z